FBN2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human FBN2 wild-type allele is located within 5q23-q31 and is approximately 401 kb in length. This allele, which encodes fibrillin-2 protein, plays a role in the formation of extracellular microfibrils and elastic fibers. Mutation of the gene is associated with both congenital contractural arachnodactyly and early-onset macular degeneration.

**Synonyms:** - CCA - Congenital Contractural Arachnodactyly Gene - DA9 - EOMD - Fibrillin 2 wt Allele - Fibrillin 5 Gene